Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17129842G>A , CM000672.2:g.17129842G>A | GRCh38 |
| NC_000010.10:g.17171841G>A , CM000672.1:g.17171841G>A | GRCh37 |
| NC_000010.9:g.17211847G>A | NCBI36 |
| NG_008967.1:g.4976C>T , LRG_540:g.4976C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011519708.1:c.-77C>T | XP_011518010.1:n.-77C>T | |
| XM_011519708.2:c.-77C>T | XP_011518010.1:n.-77C>T |